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PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome: a case of relapsed episodes of gastrointestinal inflammation and literature review
  1. Ziqi Zhou1,
  2. Wei guang Qiao2,
  3. Jie Lin1
  1. 1Department of Pathology, Nanfang Hospital & School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China
  2. 2Department of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou, China
  1. Correspondence to Dr Jie Lin, Department of Pathology, Nanfang Hospital / School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; jielin{at}smu.edu.cn

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A 25-year-old man presented to our hospital with recurrent diarrhoea. He had experienced fluctuating bowel habits for over two decades, alongside recurrent epigastric pain and a consistently thin physique. His gastrointestinal (GI) symptoms began worsening at the age of 2, but received limited attention until recent years. In 2007, he underwent a colon biopsy at another hospital, where Crohn’s disease was suspected. Between 2019 and 2023, the patient was hospitalised intermittently 17 times for dermatological issues (dermatological biopsy data unavailable). His skin condition was notably severe, overshadowing his GI symptoms. Due to a severely low neutrophil count, genetic testing was performed, revealing a heterozygous mutation in PSTPIP (p.E250K), leading to a diagnosis of PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. Surprisingly, his father also carries this mutation and experiences severe diarrhoea. However, the father has not undergone GI endoscopic examinations, hindering specific pathological characterisation.

The patient was hospitalised for GI symptoms and underwent endoscopic examination, revealing mild hyperaemia and oedema in the gastric body mucosa, along with focal redness and verrucous ulcers at the gastric antrum (figure 1A). The ascending colon showed redness, swelling and ulceration (figure 1B), while the mucosa of other intestinal segments (including the duodenum, terminal ileum and left colon) appeared smooth and without significant abnormalities.

Figure 1

-(A,C,E): Both endoscopic and pathologic microscopic views of the patient's stomach. (A) Multiple ulcers of the gastric antrum; (C) No glandular reduction, no dysplasia or metaplasia in epithelium(10x,H&E); (E) Intense inflammatory cell infiltration, with the arrow indicating neutrophils, no crypt abscesses or granulomatous structures in intrinsic layer, consistent with ulcer surroundings (40x, H&E). (B,D,F): Both endoscopic and pathologic microscopic views of the patient's ascending colon. (B) A red, swollen, congested ulcer; (D) The cellular interstitium is slightly edematous with a dense concentration of lymphocytes and plasma cells. Besides, a small neutrophilic infiltration …

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Footnotes

  • Handling editor Deepa T Patil.

  • Contributors All authors were involved in planning, conduct, reporting, conception and design, acquisition of data, analysis, data interpretation, writing and reviewing of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer-reviewed.